Varaico: Literature-Extracted Genetic Variants

INPPL1

254 papers

RefSeq Summary

The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epiderm...

Pfam Domains

SH2aa 21–102UCSCSH2 domain

C2_SHIP1-2_firstaa 307–395UCSCSHIP1/2 first C2 domain

C2_SHIP1-2_2ndaa 762–869UCSCSHIP1/2 second C2 domain

SAM_1aa 1199–1258UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

inositol polyphosphate phosphatase like 1

HGNC Alias Symbol

SHIP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001567.4

p.Q251_N252Splc

c.753+1G>A

Surrounding Variants

5 papers

NM_001567.4

p.Q251H

c.753G>C

4 papers

NM_001567.4

p.Q251H

c.753G>T

1 paper

NM_001567.4

p.R246H

c.737G>A

1 paper

NM_001567.4

p.V244M

c.730G>A

1 paper

NM_001567.4

p.S240G

c.718A>G

1 paper

NM_001567.4

p.Q251_N252Splc

c.753+82A>G

1 paper

NM_001567.4

p.K224delFs

c.670_671delAA

4 papers

NM_001567.4

p.T256_G257delFs

c.768_769delAG

1 paper

NM_001567.4

p.G257E

c.770G>A

1 paper

NM_001567.4

p.E258fs

c.772_773fs

4 papers

NM_001567.4

p.E258fs

c.772_773fs

1 paper

NM_001567.4

p.E260G

c.779A>G